increased brain cholesterol level_App<tm1Dbo>/App<tm1Dbo>,Npc1<m1N>/Npc1<m1N>

http://metadb.riken.jp/0010162CCgApptm1DboNpc1m1NApptm1DboApptm1DboNpc1m1NNpc1m1NApptm1DboNpc1m1N

increased brain cholesterol level_App<tm1Dbo>/App<tm1Dbo>,Npc1<m1N>/Npc1<m1N>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• Niemann-Pick type C1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1097712
• amyloid beta (A4) precursor protein
  http://metadb.riken.jp/db/mgi_rdf/MGI:88059

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• App<tm1Dbo>/App<tm1Dbo>,Npc1<m1N>/Npc1<m1N>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• App<tm1Dbo>|Npc1<m1N>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• C.Cg-App<tm1Dbo> Npc1<m1N>

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• increased brain cholesterol level
  http://purl.obolibrary.org/obo/MP_0010162

文献

http://purl.org/net/cito/citesAsAuthority

• Ana. Nunes, et.al., Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis., Neurobiology of disease, 2011, 42
  http://rdf.ncbi.nlm.nih.gov/pubmed/21303697